Laura Baroncelli
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View article: Dysfunction of the Autophagy System and MDM2–p53 Axis Leads to the Accumulation of Amyloidogenic Proteins in Angelman Syndrome Models
Dysfunction of the Autophagy System and MDM2–p53 Axis Leads to the Accumulation of Amyloidogenic Proteins in Angelman Syndrome Models Open
Angelman Syndrome (AS) is a neurodevelopmental disorder caused by the deficiency of the UBE3A gene that for a E3 ligase protein part of the ubiquitin–proteasome system (UPS). Autophagy and UPS systems remove abnormal proteins, but any dysf…
View article: Dysfunction of the Autophagy System and MDM2-p53 Axis Leads to the Accumulation of Amyloidogenic Proteins in Angelman Syndrome Models
Dysfunction of the Autophagy System and MDM2-p53 Axis Leads to the Accumulation of Amyloidogenic Proteins in Angelman Syndrome Models Open
Angelman Syndrome (AS) is a neurodevelopmental disorder caused by the deficiency of the UBE3A gene that for a E3 ligase protein part of the ubiquitin-proteasome system (UPS). Autophagy and UPS systems remove abnormal proteins, but any dysf…
View article: Connectomic and behavioural alterations in creatine transporter deficiency are partially normalized by gene therapy
Connectomic and behavioural alterations in creatine transporter deficiency are partially normalized by gene therapy Open
Creatine Transporter Deficiency (CTD) is an X-linked disorder due to the loss of SLC6A8 gene and presenting with low brain creatine, intellectual disability, autistic-like behavior and seizures. No treatments are available yet for CTD, and…
View article: fNIRS as a biomarker for X-linked neurodevelopmental disorders: leveraging visual processing to assess brain function?
fNIRS as a biomarker for X-linked neurodevelopmental disorders: leveraging visual processing to assess brain function? Open
Neurodevelopmental disorders (NDDs) cause profound intellectual and physical impairment, yet therapeutic progress remains hindered by the lack of quantitative, unbiased, and non-invasive biomarkers to monitor disease onset and progression.…
View article: Pornography Consumption Among Young People: An Assessment of Parents’ and Teachers’ Training Needs
Pornography Consumption Among Young People: An Assessment of Parents’ and Teachers’ Training Needs Open
Introduction In Spain and Italy, it is estimated that childrens’ first contact with pornography can occur before the age of 10 years. Minors in this position lack the emotional tools necessary to analyze pornographic content critically. Ho…
View article: Age-Dependent Cortical Overconnectivity in Shank3 Mice is Reversed by Anesthesia
Age-Dependent Cortical Overconnectivity in Shank3 Mice is Reversed by Anesthesia Open
Growing evidence points to brain network dysfunction as a central neurobiological basis for autism spectrum disorders (ASDs). As a result, studies on Functional Connectivity (FC) have become pivotal for understanding the large-scale networ…
View article: Connectomic and behavioral alterations in creatine transporter deficiency are partially normalized by gene therapy
Connectomic and behavioral alterations in creatine transporter deficiency are partially normalized by gene therapy Open
Creatine Transporter Deficiency (CTD) is an X-linked disorder due to the loss of SLC6A8 gene and presenting with low brain creatine, intellectual disability, autistic-like behavior and seizures. No treatments are available yet for CTD, and…
View article: A Potential Biomarker of Brain Activity in Autism Spectrum Disorders: A Pilot fNIRS Study in Female Preschoolers
A Potential Biomarker of Brain Activity in Autism Spectrum Disorders: A Pilot fNIRS Study in Female Preschoolers Open
Autism spectrum disorder (ASD) refers to a neurodevelopmental condition whose detection still remains challenging in young females due to the heterogeneity of the behavioral phenotype and the capacity of camouflage. The availability of qua…
View article: Long-term beneficial impact of the randomised trial ‘Train the Brain’, a motor/cognitive intervention in mild cognitive impairment people: effects at the 14-month follow-up
Long-term beneficial impact of the randomised trial ‘Train the Brain’, a motor/cognitive intervention in mild cognitive impairment people: effects at the 14-month follow-up Open
No treatment options are currently available to counteract cognitive deficits and/or delay progression towards dementia in older people with mild cognitive impairment (MCI). The ‘Train the Brain’ programme is a combined motor and cognitive…
View article: Crosslinked Chitosan Nanoparticles with Muco-Adhesive Potential for Intranasal Delivery Applications
Crosslinked Chitosan Nanoparticles with Muco-Adhesive Potential for Intranasal Delivery Applications Open
Intranasal drug delivery is convenient and provides a high bioavailability but requires the use of mucoadhesive nanocarriers. Chitosan is a well-established polymer for mucoadhesive applications but can suffer from poor cytocompatibility a…
View article: Dodecyl creatine ester improves cognitive function and identifies key protein drivers including KIF1A and PLCB1 in a mouse model of creatine transporter deficiency
Dodecyl creatine ester improves cognitive function and identifies key protein drivers including KIF1A and PLCB1 in a mouse model of creatine transporter deficiency Open
Creatine transporter deficiency (CTD), a leading cause of intellectual disability is a result of the mutation in the gene encoding the creatine transporter SLC6A8, which prevents creatine uptake into the brain, causing mental retardation, …
View article: Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency
Cell-specific vulnerability to metabolic failure: the crucial role of parvalbumin expressing neurons in creatine transporter deficiency Open
Mutations in the solute carrier family 6-member 8 ( Slc6a8 ) gene, encoding the protein responsible for cellular creatine (Cr) uptake, cause Creatine Transporter Deficiency (CTD), an X-linked neurometabolic disorder presenting with intelle…
View article: Stabilized Reversed Polymeric Micelles as Nanovector for Hydrophilic Compounds
Stabilized Reversed Polymeric Micelles as Nanovector for Hydrophilic Compounds Open
Small hydrophilic drugs are widely used for systemic administration, but they suffer from poor absorption and fast clearance. Their nanoencapsulation can improve biodistribution, targeted delivery, and pharmaceutical efficacy. Hydrophilics…
View article: A potential biomarker of brain activity in ASD: a pilot fNIRS study in female preschoolers
A potential biomarker of brain activity in ASD: a pilot fNIRS study in female preschoolers Open
Looking for visual cortical activity as putative brain biomarker: a pilot fNIR study on autistic female preschoolers. We performed an observational prospective monocentric study in a tertiary care University hospital (IRCCS Stella Maris Fo…
View article: A potential biomarker of brain activity in ASD: a pilot fNIRS study in female preschoolers
A potential biomarker of brain activity in ASD: a pilot fNIRS study in female preschoolers Open
Looking for visual cortical activity as putative brain biomarker: a pilot fNIR study on autistic female preschoolers. We performed an observational prospective monocentric study in a tertiary care University hospital (IRCCS Stella Maris Fo…
View article: Dodecyl Creatine Ester Improves Cognitive Function and Identifies Drivers of Creatine Deficiency
Dodecyl Creatine Ester Improves Cognitive Function and Identifies Drivers of Creatine Deficiency Open
Creatine transporter deficiency prevents creatine uptake into the brain, leading to mental retardation. To better understand the pathophysiology, this study focuses on the identification of biomarkers related to cognitive improvement in a …
View article: Oral Feeding of an Antioxidant Cocktail as a Therapeutic Strategy in a Mouse Model of Rett Syndrome: Merits and Limitations of Long-Term Treatment
Oral Feeding of an Antioxidant Cocktail as a Therapeutic Strategy in a Mouse Model of Rett Syndrome: Merits and Limitations of Long-Term Treatment Open
Rett syndrome (RTT) is a severe neurodevelopmental disorder that typically arises from spontaneous germline mutations in the X-chromosomal methyl-CpG binding protein 2 (MECP2) gene. For the first 6–18 months of life, the development of the…
View article: Perturbation of Cortical Excitability in a Conditional Model of PCDH19 Disorder
Perturbation of Cortical Excitability in a Conditional Model of PCDH19 Disorder Open
PCDH19 epilepsy (DEE9) is an X-linked syndrome associated with cognitive and behavioral disturbances. Since heterozygous females are affected, while mutant males are spared, it is likely that DEE9 pathogenesis is related to disturbed cell-…
View article: Perturbation of cortical excitability in a conditional model of PCDH19 disorder
Perturbation of cortical excitability in a conditional model of PCDH19 disorder Open
PCDH19 epilepsy (DEE9) is an X linked epilepsy syndrome associated to cognitive and behavioural disturbances. Unlike in most other X linked diseases, heterozygous females are affected while hemizygous males are spared. It has been proposed…
View article: Looking for “fNIRS Signature” in Autism Spectrum: A Systematic Review Starting From Preschoolers
Looking for “fNIRS Signature” in Autism Spectrum: A Systematic Review Starting From Preschoolers Open
Accumulating evidence suggests that functional Near-Infrared Spectroscopy (fNIRS) can provide an essential bridge between our current understanding of neural circuit organization and cortical activity in the developing brain. Indeed, fNIRS…
View article: The amplitude of fNIRS hemodynamic response in the visual cortex unmasks autistic traits in typically developing children
The amplitude of fNIRS hemodynamic response in the visual cortex unmasks autistic traits in typically developing children Open
Autistic traits represent a continuum dimension across the population, with autism spectrum disorder (ASD) being the extreme end of the distribution. Accumulating evidence shows that neuroanatomical and neurofunctional profiles described i…
View article: Creatine deficiency and heart failure
Creatine deficiency and heart failure Open
Impaired cardiac energy metabolism has been proposed as a mechanism common to different heart failure aetiologies. The energy-depletion hypothesis was pursued by several researchers, and is still a topic of considerable interest. Unlike mo…
View article: Longitudinal Bottom-Up Proteomics of Serum, Serum Extracellular Vesicles, and Cerebrospinal Fluid Reveals Candidate Biomarkers for Early Detection of Glioblastoma in a Murine Model
Longitudinal Bottom-Up Proteomics of Serum, Serum Extracellular Vesicles, and Cerebrospinal Fluid Reveals Candidate Biomarkers for Early Detection of Glioblastoma in a Murine Model Open
Glioblastoma Multiforme (GBM) is a brain tumor with a poor prognosis and low survival rates. GBM is diagnosed at an advanced stage, so little information is available on the early stage of the disease and few improvements have been made fo…
View article: Visual Cortex Engagement in Retinitis Pigmentosa
Visual Cortex Engagement in Retinitis Pigmentosa Open
Retinitis pigmentosa (RP) is a family of inherited disorders caused by the progressive degeneration of retinal photoreceptors. There is no cure for RP, but recent research advances have provided promising results from many clinical trials.…
View article: The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development
The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development Open
Creatine (Cr) Transporter Deficiency (CTD) is an X-linked metabolic disorder, mostly caused by missense mutations in the SLC6A8 gene and presenting with intellectual disability, autistic behavior, and epilepsy. There is no effective treatm…
View article: The amplitude of fNIRS hemodynamic response in the visual cortex unmasks autistic traits in typically developing children
The amplitude of fNIRS hemodynamic response in the visual cortex unmasks autistic traits in typically developing children Open
Autistic traits represent a continuum dimension across the population, with autism spectrum disorder (ASD) being the extreme end of the distribution. Accumulating evidence shows that neuroanatomical and neurofunctional profiles described i…
View article: Functional near-infrared spectroscopy visually evoked measurements and Autism Questionnaire score in adults and children
Functional near-infrared spectroscopy visually evoked measurements and Autism Questionnaire score in adults and children Open
Functional near-infrared spectroscopy (fNIRS) visually-evoked data collected from healthy adults and children. We recruited a total of 40 adult participants (20 women, age: 31.05 ± 3.94 (SD) years) and 19 children (5 girls, age: 7.20 ± 3.0…